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54 results
  1. ... mutation of LIPA. Differential Diagnosis Acid sphingomyelinase deficiency (Niemann-Pick disease, types A and B). Overlapping clinical features of lysosomal acid lipase (LAL) deficiency and Niemann-Pick disease types A and B are hepatosplenomegaly, which is ...
  2. ... published></health-condition-summary><health-condition-summary ><name >Niemann-Pick disease</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  3. ... help distinguish between them. Hepatosplenomegaly is observed in Niemann-Pick disease types A and B (see Acid Sphingomyelinase Deficiency ), Niemann-Pick disease type C , Wolman disease (lysosomal lipase deficiency), the ...
  4. ... disorders, including: infantile Gaucher disease , GM1 gangliosidosis , galactosialidosis, Niemann-Pick disease type A , and Sandhoff disease. Neurologic regression is ...
  5. ... deficiency: Ketoacidosis Extremely elevated glycerol GK Glycerol kinase Niemann-Pick disease type B 8 (see Acid Sphingomyelinase Deficiency ) AR Growth restriction Hepatomegaly Hyperlipidemia In Niemann-Pick disease type B: Lack of fasting hypoglycemia Significant splenomegaly ...
  6. ... C10.228.140.163.100.435.825.700...........................................Niemann-Pick Diseases C10.228.140.163.100.435.825.700.500...........................................Niemann-Pick Disease, Type A C10.228.140.163.100.435. ...
  7. ... Variant Gangliosidosis, GM1 Gaucher Disease Leukodystrophy, Globoid Cell Niemann-Pick Diseases Niemann-Pick Disease, Type A Niemann-Pick Disease, Type B Niemann- ...
  8. ... C10.228.140.163.100.435.825.700...........................................Niemann-Pick Diseases C10.228.140.163.100.435.825.700.500...........................................Niemann-Pick Disease, Type A C10.228.140.163.100.435. ...
  9. NLM Digital Collections - Risk estimation and the prevention of cardiovascular disease : a national clinical guideline 
    Publication: Edinburgh, Scotland : Scottish Intercollegiate Guidelines Network (SIGN), June 2017
    ... and Care Excellence | 83 Risk estimation and the prevention of cardiovascular disease NIHR-HTA National Institute for Health Research - Health Technology Assessment NNH number needed to harm NNT number needed to treat NPC1L1 Niemann-Pick C1-Like 1 NRT nicotine replacement therapy OR ...
  10. ... al 2010 ]. Metabolic syndromes including lysosomal storage diseases, Niemann-Pick disease type C , GM1 gangliosidosis , Lesch-Nyhan syndrome , homocystinuria , ... and pallidal deep brain stimulation may be considered. Prevention of Secondary Complications Consider influenza vaccine, prophylactic antibiotics, ...
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